L0301P45 - Genetic Counselling
Clinical Genetics Team *clinical geneticists **specialist training in genetics *genetic counsellors *clinical genetics fellows **doctors undertaking specialist training *molecular geneticists, cytogeneticists etc **laboratory scientists *other health care professionals Genetics Counselling *way of helping patients and families better understand their genetic health issues *process that enable patients and families to use genetic information to their benefit *means of providing support to families *process to facilitate informed decisions Genetic Consultation *diagnosis *information and education *risk assessment *genetic testing *counselling and support *informed decision making *management Preparation for the Consultation *intake - information gathering **reason for referral **existing genetic file for the family **gather any relevant test results *patient agenda **questions, issues, expectations **prior knowledge **misconceptions *geneticist/counsellor agenda **is their agenda aligned with the patient’s agenda Diagnosis *detailed family pedigree *clinical examination *identify pattern of associated features if trying to diagnose a particular patient *investigations required **x-rays **biochemical analysis **chromosome analysis Information and Education Information *genetic information is **intrinsically complicated **rapidly evolving **impacts the whole family **frequently deals with social taboos **disability, abortion, consanguinity, IVF Education *assess patient knowledge *respect their knowledge and build on it *description of condition **variability, natural history, treatment, management *inheritance pattern *address and correct any misconceptions Risk Assessment *estimating risk using Mendelian, empiric, statistical date **from pedigree analysis **knowledge of the condition **interpreting test results *conveying risk **ensure the patient understands the risk *perception of the risk **how each patient sees the risk percentage **no value judgment on the risk Genetic Testing *diagnostic test **done on a patient who is exhibiting symptoms of the condition in question **can be a child or adult **prenatal diagnosis *pre-symptomatic diagnosis **before development of symptoms **newborn screening *predictive testing **likelihood of developing a condition in the future **penetrance cannot be predicted *carrier testing **cascade screening ***screening of the family for an identified mutation or condition **population screening ***generalised approach where someone without previous history can be screened for a panel of common mutations and conditions Creating a Supportive Environment *necessary for sensitive information and difficult decisions *recognising and including important emotional and psychosocial components in the process: **grief and loss **relationship issues (prenatal decision) **family dysfunction **anxiety and fear of illness *non-directional counselling: **avoids judgment **no preconceived outcome to the decision making process **however, clinical recommendations are given where these are medically indicated   Informed Decision Making *provide all the information **discussion, questions, understanding *giving them all the options *respect personal belief and values *be aware of the influence from support network and society *ensure decision is made free from coercion *support whatever decision they make Issues with Decision Making *risk perception *personal experience with condition **family member who has had it **been around people with it *emotional state *nature and perceived burden of condition **dependent on many factors: ***natural history, quality of life, treatment, physical, emotional, financial burden *conflict between beliefs and values *consideration of other family members **may be coerced Follow Ups *many patients/families are seen just once *summary letter to family and referring doctor *review appointment for: **results **diagnosis **clarification or further questions **new information **management **research with ethics committee approval and patient/parent consent Microarray *capable of molecular genetic detection of mutations as small as 2-1000bp *reporting of results **normal (no clinically significant copy number variant detected) **pathogenic copy number variant **copy number variant of uncertain significance (VOUS) **copy number variant of unknown significance *determining clinical significance **parental microarray results (de novo or inherited) **previously reported or not (uncertain or unknown) **size of copy number variant **gene content and function **deletion or duplication ***deletions tend to be more pathogenic Counselling Issues *becoming routine method for prenatal chromosome analysis *pre-test counselling and informed consent is important *residual uncertainty regarding outcome for baby **unquantifiable risk **even though inherited from healthy parent this does not provide reassurance re pregnancy **normal ultrasound reassuring but not diagnostic **unable to detect developmental problems prenatally *many emotions (guilt, fear, sadness) *50% risk for subsequent pregnancies *controversy regarding termination of pregnancy requests for uncertain findings  